ClinVar Miner

Variants studied for Early myoclonic encephalopathy

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
8 4 1043 564 90 1709

Gene and significance breakdown #

Total genes and gene combinations: 6
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
JMJD1C 0 0 780 413 60 1253
KCND2 5 1 179 149 14 348
SLC25A22 3 3 81 2 15 104
KCND2, TSPAN12 0 0 2 0 0 2
EGR2, JMJD1C, NRBF2 0 0 1 0 0 1
JMJD1C, LOC129390177 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 7
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 5 1 962 562 75 1605
Illumina Laboratory Services, Illumina 0 0 75 2 15 92
Genetic Services Laboratory, University of Chicago 1 1 6 0 0 8
Fulgent Genetics, Fulgent Genetics 0 0 2 0 0 2
Medical Genetic Team, CHRU Montpellier 2 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.